Genes and Conditions Tested
Conditions & Genes Associated
Metabolic Disorders HSD3B2, HADH, MCCC1, MCCC2, PHGDH, MTTP, SLC39A4, ABCD1, ARG1, ASL, ACAT1, BTD, CPS1, CPT1A, CPT2, SLC25A20, IGSF1, TRHR, GAMT, GATM, FOLR1, CYP27A1, ASS1, SLC25A13, LHX3, PROP1, CYP11B1, CYP17A1, NR0B1, HSD3B7, AKR1D1, MPI, ABCC8, HNF4A, KCNJ11, GLUD1, PAX8, SLC5A5, TG, THRA, TPO, TSHB, TSHR, STAR, CYP11B2, UGT1A1, CTNS, POR, AVPR2, QDPR, GLA, MC2R, FBP1, GALK1, GALE, GALT, G6PD, SLC2A1, ETFA, ETFB, ETFDH, GCDH, GSS, G6PC, GAA, AGL, GYS2, SLC37A4, PYGL, GLB1, ALDOB, HMGCL, HMGCS2, HLCS, CBS, LDLR, ALPL, ACAD8, IVD, GALC, SURF1, LPL, SLC7A7, LIPA, MLYCD, BCKDHA, BCKDHB, DBT, DLD, ACADM, ATP7A, ARSA, MAT1A, LMBRD1, MTR, MTRR, MMAA, MMAB, MMACHC, MMADHC, MUT, MCEE, HADHA, HADHB, GALNS, IDUA, IDS, ARSB, GUSB, NAGS, INS, CASR, AQP2, SMPD1, NPC1, OTC, SLC25A15, PAH, POU1F1, AGXT, HOGA1, GRHPR, PCCA, PCCB, SCNN1A, SCNN1B, PKLR, SPR, ABCG5, SLC22A5, PCBD1, PTS, DUOX2, DUOXA2, IYD, TCN2, TRMU, TH, FAH, TAT, HPD, VDR, CYP27B1, ACADVL, ATP7B
Blood Disorders HBB, MPL, ELANE, HAX1, F9, ENG, ACVRL1, ANK1, EPB42, SLC4A1, SPTB, ADAMTS13
Hearing Loss KCNE1, CDH23, GJB2, GJB6, OTOF, TECTA, TMIE, TMPRSS3, TPRN, TRIOBP, SLC26A4, WHRN, MYO15A,PAX3, SOX10, USH1C, USH1G, USH2A
Cardiac Conditions PTPN11, TAZ, LAMP2, ZIC3, SMAD3, TGFBR1, TGFBR2, FBN1
Immunodeficiency Disorders (SCID) RFX5, RFXANK, RFXAP, CIITA, CYBA, CYBB, NCF2, DOCK8, FOXP3, RAG1, RAG2, CD3D, CD3E, DCLRE1C, IL7R, JAK3, PTPRC, ZAP70, ADA, IL2RG, BTK, CD40LG
Pediatric Cancers BMPR1A, SMAD4, MEN1, NF1, NF2, PTCH1, STK11, RB1, VHL, ERCC2, ERCC5, XPA, XPC
Epilepsy KCNQ2, SCN1A, SCN2A, SCN8A, ETHE1, PRRT2, PNPO, ALDH7A1, TSC1, TSC2
Vision Loss OAT, GPR143, SLC45A2, OPA1
Other Conditions JAG1, COL4A3, COL4A4, COL4A5, TTPA, NTRK1, ANKH, CRLF1, CFTR, GCH1, PRF1, MEFV, WT1, HPS1, HPS4, SLC34A3, COL1A1, COL1A2, TCIRG1, PKHD1, PKD2, SMN1, SMN2
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Blood disorders in newborns can be a result of abnormal development of red blood cells or malformation of blood vessels. This test screens for conditions that can lead to anemia and other blood-related conditions. Early detection can aid in treatment and management measures for these conditions, including surveillance, transfusions, and bone marrow transplant therapy.
Condition Gene
Beta-thalassemia HBB
Congenital amegakaryocytic thrombocytopaenia MPL
Congenital neutropenia ELANE, HAX1
Hemophilia B F9
Hereditary hemorrhagic telangiectasia type 1 ENG
Hereditary hemorrhagic telangiectasia type 2 ACVRL1
Spherocytosis ANK1, EPB42, SLC4A1, SPTB
Thrombotic thrombocytopenic purpura ADAMTS13
CANCER SYNDROMES (PEDIATRIC)
Cancer syndromes are characterized by uncontrolled abnormal cell growth. This test analyzes a number of genes associated with pediatric cancers that can develop in early childhood. By identifying infants who have increased risk for pediatric cancers, medical decisions, surveillance, and steps towards preventive care can be made early on. Management options include increased surveillance and screening.
Condition Gene
Juvenile polyposis syndrome BMPR1A, SMAD4
Multiple endocrine neoplasia I MEN1
Neurofibromatosis type 1 NF1
Neurofibromatosis type 2 NF2
Nevoid basal cell carcinoma syndrome PTCH1
Peutz-Jeghers syndrome STK11
Retinoblastoma RB1
Von Hippel-Lindau syndrome VHL
Xeroderma pigmentosum ERCC2, ERCC5, XPA, XPC
2020 ©Picture Genetics. All Rights Reserved. | www.picturegenetics.com | [email protected] | + 1 626.434.3596 2 EPILEPSY Epilepsy is a neurological disorder that results in disturbances of nerve cell activity in the brain, causing seizures. Early detection and implementation of treatment, management, and/or surveillance can improve overall quality of life for infants diagnosed with these conditions. Management options include routine monitoring and anti- epileptic medication.
Condition Gene
Benign familial neonatal seizures KCNQ2
Dravet syndrome SNC1A
Early infantile epileptic encephalopathy; Benign familial infantile seizures SCN2A, SCN8A
Ethylmalonic encephalopathy ETHE1
Familial infantile convulsions with paroxysmal choreoathetosis PRRT2
Pyridoxal 5'-phosphate-dependent epilepsy PNPO
Pyridoxine-dependent epilepsy ALDH7A1
Tuberous sclerosis TSC1, TSC2
HEARING LOSS Hearing loss can impact a child’s speech and language development. This test analyzes the genes related to early-onset hearing loss. Early identification and intervention can improve a child’s learning, development, and quality of life. Management options include the use of hearing aids and other devices, and speech language therapies.
Condition Gene
Jervell and Lange-Nielsen syndrome KCNE1
Nonsyndromic hearing loss CDH23, GJB2, GJB6, OTOF, TECTA, TMIE, TMPRSS3, TPRN, TRIOBP
Pendred syndrome SLC26A4
Sensorineural hearing loss MYO15A
Shah-Waardenburg syndrome SOX10
Usher syndrome 1G USH1G
Usher syndrome type 1C USH1C
Usher syndrome type 2A USH2A
Usher syndrome IID WHRN
Waardenburg syndrome PAX3
VISION LOSS Vision loss in young children and infants can have an adverse effect on a child’s growth and development. Early detection can aid in treatment and management measures for these conditions. Management options include dietary management, vision aids, and reduced sun exposure.
Condition Gene
Gyrate atrophy of the choroid and retina OAT
Ocular albinism type I GPR143
Oculocutaneous albinism type IV SLC45A2
Optic atrophy 1 OPA1
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Metabolic conditions are often related to abnormal chemical reactions that occur in the body. Early detection can aid in treatment and management measures for these conditions. Management options include dietary modifications, hormone and enzyme replacement therapy, surgery, and surveillance.
Condition Gene
3-beta-hydroxysteroid dehydrogenase deficiency HSD3B2
3-hydroxyacyl-CoA dehydrogenase deficiency; Congenital hyperinsulinism HADH
3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1
3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2
3-phosphoglycerate dehydrogenase deficiency PHGDH
Abetalipoproteinemia MTTP
Acrodermatitis enteropathica SLC39A4
Adrenoleukodystrophy ABCD1
Arginase deficiency ARG1
Argininosuccinic aciduria ASL
Beta-ketothiolase deficiency (Alpha-methylacetoacetic aciduria) ACAT1
Biotinidase deficiency BTD
Carbamoylphosphate synthetase I deficiency CPS1
Carnitine palmitoyltransferase I deficiency CPT1A
Carnitine palmitoyltransferase II deficiency CPT2
Carnitine-acylcarnitine translocase deficiency SLC25A20
Central hypothyroidism and testicular enlargement IGSF1
Central hypothyroidism with thyrotropin-releasing hormone resistance TRHR
Cerebral creatine deficiency syndrome GAMT, GATM
Cerebral folate transport deficiency FOLR1
Cerebrotendinous xanthomatosis CYP27A1
Citrullinemia ASS1, SLC25A13
Combined pituitary hormone deficiency LHX3, PROP1
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency CYP11B1
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency CYP11A1
Congenital adrenal hypoplasia NR0B1
Congenital bile acid synthesis defect type 1 HSD3B7
Congenital bile acid synthesis defect type 2 AKR1D1
Congenital disorder of glycosylation 1b MPI
Congenital hyperinsulinism ABCC8, HNF4A, KCNJ11
Congenital hyperinsulinism with hyperammonemia GLUD1
Congenital hypothyroidism PAX8, SLC5A5, TG, THRA, TPO, TSHB, TSHR
Congenital lipoid adrenal hyperplasia STAR
Corticosterone methyloxidase deficiency CYP11B2
Crigler-Najjar syndrome UGT1A1
Cystinosis CTNS
Cytochrome P450 oxidoreductase deficiency POR
Diabetes insipidus, nephrogenic AVPR2
Dihydropteridine reductase deficiency QDPR
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